LOCUS       NM_001318939            1054 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens EEF1A lysine methyltransferase 1 (EEF1AKMT1),
            transcript variant 2, mRNA.
ACCESSION   NM_001318939 XM_005266287
VERSION     NM_001318939.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1054)
  AUTHORS   Hamey,J.J., Winter,D.L., Yagoub,D., Overall,C.M., Hart-Smith,G. and
            Wilkins,M.R.
  TITLE     Novel N-terminal and Lysine Methyltransferases That Target
            Translation Elongation Factor 1A in Yeast and Human
  JOURNAL   Mol Cell Proteomics 15 (1), 164-176 (2016)
   PUBMED   26545399
  REMARK    GeneRIF: Data indicate that the methylation of lysine (Lys) in
            elongation factor 1A (eEF1A) by methyltransferase is conserved from
            yeast to human.
REFERENCE   2  (bases 1 to 1054)
  AUTHORS   Verweij,N., Mateo Leach,I., van den Boogaard,M., van
            Veldhuisen,D.J., Christoffels,V.M., Hillege,H.L., van Gilst,W.H.,
            Barnett,P., de Boer,R.A. and van der Harst,P.
  CONSRTM   LifeLines Cohort Study
  TITLE     Genetic determinants of P wave duration and PR segment
  JOURNAL   Circ Cardiovasc Genet 7 (4), 475-481 (2014)
   PUBMED   24850809
REFERENCE   3  (bases 1 to 1054)
  AUTHORS   Li,J.Y., Wang,H.Y., Liu,J., Liu,Q., Zhang,J.S., Wan,F.C., Liu,F.J.,
            Jin,S.H. and Zhang,Y.L.
  TITLE     Transcriptome analysis of a cDNA library from adult human
            epididymis
  JOURNAL   DNA Res 15 (3), 115-122 (2008)
   PUBMED   18390568
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512652.18, AL597222.1, AK316604.1 and DQ823637.1.
            
            On May 17, 2019 this sequence version replaced NM_001318939.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.271545.1,
                                           SRR1803617.502113.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382758.6/ ENSP00000372206.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AL512652.18        62903-62905         c
            4-85                AL597222.1         2-83
            86-705              AK316604.1         81-700
            706-854             DQ823637.1         732-880
            855-1054            AL512652.18        17675-17874         c
FEATURES             Location/Qualifiers
     source          1..1054
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..1054
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /note="EEF1A lysine methyltransferase 1"
                     /db_xref="GeneID:221143"
                     /db_xref="HGNC:HGNC:27351"
                     /db_xref="MIM:617793"
     exon            1..41
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /inference="alignment:Splign:2.1.0"
     exon            42..204
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..705
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /note="n(6)-adenine-specific DNA methyltransferase 2;
                     protein-lysine N-methyltransferase N6AMT2; N-6
                     adenine-specific DNA methyltransferase 2 (putative);
                     eukaryotic translation elongation factor 1 alpha lysine
                     methyltransferase 1"
                     /codon_start=1
                     /product="EEF1A lysine methyltransferase 1"
                     /protein_id="NP_001305868.1"
                     /db_xref="CCDS:CCDS9293.1"
                     /db_xref="GeneID:221143"
                     /db_xref="HGNC:HGNC:27351"
                     /db_xref="MIM:617793"
                     /translation="MSDLEDDETPQLSAHALAALQEFYAEQKQQIEPGEDDKYNIGII
                     EENWQLSQFWYSQETALQLAQEAIAAVGEGGRIACVSAPSVYQKLRELCRENFSIYIF
                     EYDKRFAMYGEEFIFYDYNNPLDLPERIAAHSFDIVIADPPYLSEECLRKTSETVKYL
                     TRGKILLCTGAIMEEQAAELLGVKMCTFVPRHTRNLANEFRCYVNYDSGLDCGI"
     exon            205..287
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /inference="alignment:Splign:2.1.0"
     exon            288..568
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /inference="alignment:Splign:2.1.0"
     exon            569..1054
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      835..840
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /note="hexamer: AATAAA"
     polyA_site      854
                     /gene="EEF1AKMT1"
                     /gene_synonym="eEF1A-KMT; ESP13; N6AMT2"
                     /note="major polyA site"
ORIGIN      
        1 actgcacacg gcgagtctgg gcgactgcgc acgcgcggct ggttataaac aacttgtgaa
       61 atgagtgatt tggaagatga tgagacaccc cagctttctg cccatgcctt agcagctctc
      121 caggaatttt atgctgagca aaagcaacaa attgagccag gcgaggatga taaatataac
      181 attggaataa tagaagagaa ttggcaactg agccagtttt ggtatagtca ggaaactgct
      241 ctgcagctgg cacaggaggc aattgcagct gtaggagaag gtggcagaat cgcatgtgtg
      301 agtgccccta gtgtttacca gaaactcaga gagctgtgca gagaaaactt ttcgatatac
      361 atctttgaat atgacaaaag atttgccatg tatggagagg agtttatttt ctatgattac
      421 aataatccat tggacttacc cgaaagaatt gctgcacata gttttgacat cgtaatagca
      481 gatcctccct atctttcgga ggaatgtctc agaaaaacat cggaaaccgt caagtacctg
      541 acgcggggca agattctgct gtgcacaggt gccatcatgg aagaacaggc agcagaactc
      601 cttggagtga agatgtgcac gtttgttcca agacacaccc ggaacttggc aaatgagttt
      661 cgctgttatg tgaattatga ttctgggctg gactgtggga tctgattaca gacggtgaca
      721 taacacagga aggaaccctg tcacattcct ctttttgtat tttcgtagta gatttaaaag
      781 ttataatctc ttcccctccc cccaaactgg agctgtccct ggcctggttt tcaaaataaa
      841 gtgtgcgatc ttcattattg tttccttagg gagggcgtcc ctagagctca gtcttctgcc
      901 aacctgaatc catggaattc gagttggaag aaaccttaga atctgcctga tcttctctcc
      961 tcatttaaca tgtgtaaaaa cagaagaaca gttgtgtggc ttgcccaagg gctcctgaat
     1021 gagacaggac cttggcctct gcctcgggcc agag
//
